Hearing loss, autosomal dominant 85

Synonyms: Deafness, autosomal dominant 85

Summary

Autosomal dominant deafness-85 (DFNA85) is characterized by nonsyndromic progressive sensorineural hearing loss, with onset in childhood or young adulthood (Bassani et al., 2021). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

USP48
2 tests
Also known as: DFNA85, RAP1GA1, USP31, USP48
Summary: ubiquitin specific peptidase 48

Imported from Human Phenotype Ontology (HPO)

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Ear malformation
- Cochlear nerve hypoplasia
  Cochlear nerve hypoplasia
  - MedGen UID: 902316
  - Concept ID: C4230952
  - Finding: Congenital Abnormality
  Ear malformation
  See: Feature record | Search on this feature
- Sensorineural hearing loss disorder
  Sensorineural hearing loss disorder
  - MedGen UID: 9164
  - Concept ID: C0018784
  - Finding: Disease or Syndrome
  Ear malformation
  See: Feature record | Search on this feature

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Molecular resources

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